Canonical Allele Identifier: CA6147210
Community Standard Title: NM_006019.4(TCIRG1):c.1630G>A (p.Val544Met)
Gene: TCIRG1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68048954G>A , CM000673.2:g.68048954G>A GRCh38
NC_000011.9:g.67816421G>A , CM000673.1:g.67816421G>A GRCh37
NC_000011.8:g.67572997G>A NCBI36
NG_007878.1:g.14939G>A , LRG_115:g.14939G>A

Transcript Alleles

HGVS Amino-acid Change
NM_006019.4:c.1630G>A MANE Select NP_006010.2:p.Val544Met
ENST00000265686.8:c.1630G>A MANE Select ENSP00000265686.3:p.Val544Met
NM_001351059.1:c.736G>A NP_001337988.1:p.Val246Met
NM_001351059.2:c.736G>A NP_001337988.1:p.Val246Met
NM_006019.3:c.1630G>A NP_006010.2:p.Val544Met
NM_006053.3:c.982G>A NP_006044.1:p.Val328Met
NM_006053.4:c.982G>A NP_006044.1:p.Val328Met
ENST00000265686.7:c.1630G>A ENSP00000265686.3:p.Val544Met
ENST00000525724.5:n.942G>A
ENST00000530449.2:n.255G>A
ENST00000532635.5:c.982G>A ENSP00000434407.1:p.Val328Met
ENST00000533005.5:n.743G>A
ENST00000698254.1:c.1159G>A ENSP00000513629.1:p.Val387Met
ENST00000698255.1:c.1579G>A ENSP00000513630.1:p.Val527Met
ENST00000698256.1:c.1096G>A
ENST00000698257.1:n.1048G>A
ENST00000698258.1:n.765G>A
ENST00000698259.1:n.531G>A
XM_005273709.2:c.1630G>A XP_005273766.1:p.Val544Met
XM_011544726.1:c.1630G>A XP_011543028.1:p.Val544Met
XM_011544727.1:c.1630G>A XP_011543029.1:p.Val544Met
XM_011544728.1:c.1630G>A XP_011543030.1:p.Val544Met
XM_024448320.1:c.1723G>A XP_024304088.1:p.Val575Met
XM_024448321.1:c.1723G>A XP_024304089.1:p.Val575Met
XM_024448322.1:c.1723G>A XP_024304090.1:p.Val575Met
XM_024448323.1:c.1723G>A XP_024304091.1:p.Val575Met
XM_024448324.1:c.1723G>A XP_024304092.1:p.Val575Met
XR_001747721.2:n.1754G>A
XR_001747722.1:n.1767G>A
XR_001747723.2:n.1767G>A
XR_002957115.1:n.1845G>A
XR_949754.1:n.1634G>A